storage disease

Medical Definition of storage disease

: the abnormal accumulation in the body of one or more specific substances and especially substances (such as cerebrosides in Gaucher disease) that are normally broken down by the body
… a lysosomal storage disease in which cystine accumulates intracellularly in many tissues, including the kidney.— Barbara C. Sonies et al., The New England Journal of Medicine, 30 Aug. 1990